Andrew T. DeWan, PhD, Elizabeth W

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Presentation transcript:

PDE11A associations with asthma: Results of a genome-wide association scan Andrew T. DeWan, PhD, Elizabeth W. Triche, PhD, Xuming Xu, PhD, Ling-I Hsu, MPH, Connie Zhao, PhD, Kathleen Belanger, PhD, Karen Hellenbrand, MPH, Saffron A.G. Willis-Owen, PhD, Miriam Moffatt, PhD, William O.C. Cookson, MD, PhD, Blanca E. Himes, PhD, Scott T. Weiss, MD, W. James Gauderman, PhD, James W. Baurley, MS, Frank Gilliland, MD, PhD, Jemma B. Wilk, DSc, George T. O’Connor, MD, David P. Strachan, PhD, Josephine Hoh, PhD, Michael B. Bracken, PhD Journal of Allergy and Clinical Immunology Volume 126, Issue 4, Pages 871-873.e9 (October 2010) DOI: 10.1016/j.jaci.2010.06.051 Copyright © 2010 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Result s of GWAS, additional genotyping, resequencing, and conservation analysis. A, -logP values across the autosomal SNPs for the Fisher exact allelic test. B, Lines denote the section of chromosome 2 containing the PDE11A gene that is shown in detail for all SNPs genotyped in this region. Arrow denotes the direction of transcription. 1 = rs11684634 for samples selected for sequencing; 1’ = rs11684634 for samples genotyped on Affy; 1’’ = rs11684634 for All PRAM samples; 2 = rs13428806, a sequencing SNP with a genotype dist similar to rs11684634; 3 = rs10201180, a sequencing SNP with genotype distribution similar to rs11684634; 4 = rs34543540, a sequencing SNP in which 15/16 samples with G are cases; 5 = rs12989423, a sequencing SNP in which 10/11 samples with A are cases. C, Conservation scores for the comparison of 28 species across the PDE11A gene. MAF Diff = Minor allele frequency difference, Seq Intronic = Intronic variants identified through resequencing, Seq Exonic = Exonic variants identified through resequencing. Journal of Allergy and Clinical Immunology 2010 126, 871-873.e9DOI: (10.1016/j.jaci.2010.06.051) Copyright © 2010 American Academy of Allergy, Asthma & Immunology Terms and Conditions

Linkage disequilibrium between associated SNPs across PDE11A Linkage disequilibrium between associated SNPs across PDE11A. Genotype data for the CEU samples for those SNPs associated with asthma in our study were downloaded from the HapMap database,E6 and linkage disequilibrium (D’) was calculated for SNPs by using Haploview.E14 Rs11684634 is marked with a solid box, and SNPs from the replication samples are marked with a dashed box. No replication SNP is in linkage disequilibrium with rs11684634. Note that the 2 SNPs from the Children’s Health Study with low MAF are included in this figure. Journal of Allergy and Clinical Immunology 2010 126, 871-873.e9DOI: (10.1016/j.jaci.2010.06.051) Copyright © 2010 American Academy of Allergy, Asthma & Immunology Terms and Conditions